Human Gene TUBB (uc011gui.2) Description and Page Index
Description: Homo sapiens tubulin, beta class I (TUBB), mRNA. RefSeq Summary (NM_178014): This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]. Transcript (Including UTRs) Position: chr6_mann_hap4:2,036,251-2,041,289 Size: 5,039 Total Exon Count: 4 Strand: + Coding Region Position: chr6_mann_hap4:2,036,378-2,040,268 Size: 3,891 Coding Exon Count: 4
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Comments and Description Text from UniProtKB
ID:TBB5_HUMAN DESCRIPTION: RecName: Full=Tubulin beta chain; AltName: Full=Tubulin beta-5 chain; FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. SUBUNIT: May interact with RNABP10 (By similarity). Interacts with MX1 (By similarity). Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with PIFO. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in spleen, thymus and immature brain. DOMAIN: The highly acidic C-terminal region may bind cations such as calcium. PTM: Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable). SIMILARITY: Belongs to the tubulin family. WEB RESOURCE: Name=Wikipedia; Note=Tubulin entry; URL="http://en.wikipedia.org/wiki/Tubulin";
Genetic Association Studies of Complex Diseases and Disorders
brain hemorrhage Navarro-Nunez, L. et al. 2007, The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men, Haematologica 2007 92(4) 513-8.
This is the first evidence linking the TUBB1 Q43P platelet polymorphism with hemorrhagic stroke in humans.
Multiple Sclerosis Sergio E Baranzini et al. Human molecular genetics 2009, Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis., Human molecular genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P07437
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.